Stains & CD markers
TSC1 and TSC2


Last author update: 1 August 2018
Last staff update: 24 January 2024

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PubMed Search: TSC1 [title] TSC2


Rebecca Obeng, M.D.
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Cite this page: Obeng, R. TSC1 and TSC2. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/stainsTSC1/2.html. Accessed March 19th, 2024.
Definition / general
  • TSC1 (hamartin) and TSC2 (tuberin) are tumor suppressor genes in chromosomes 9 and 16 respectively
  • TSC1 and TSC2 are expressed in a wide variety of normal tissues including skeletal muscle, brain, heart, liver, lung, kidney, pancreas, placenta, biliary epithelium, fibroblasts, lymphocytes
  • TSC1 complexes with and stabilizes TSC2 resulting in the activation of the GTPase function of TSC2 and the negative regulation of the mTOR signaling pathway (Nat Cell Biol 2002;4:648, Proc Natl Acad Sci U S A 2002;99:13571, Am J Hum Genet 2001;68:64)
  • Mutations in TSC1 or TSC2 lead to autosomal dominant inheritance of tuberous sclerosis complex with hamartomatous lesions in many tissues and organs
  • Mutations in TSC2 are more common than mutations in TSC1
  • Mutations in TSC2 also tend to lead to a more severe clinical phenotype than mutations in TSC1
Case reports
Clinical features
Microscopic (histologic) images

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Various images

Positive staining - normal
  • Skeletal muscle, brain, heart, liver, lung, kidney, pancreas, placenta, biliary epithelium, fibroblasts, lymphocytes
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